Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Fam184b'

486319

Institutional Source

Beutler Lab

Gene Symbol

Fam184b

Ensembl Gene

ENSMUSG00000015879

Gene Name

family with sequence similarity 184, member B

Synonyms

9630031F12Rik

MMRRC Submission

044204-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45529705-45639614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45582896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 316 (S316L)

Ref Sequence

ENSEMBL: ENSMUSP00000016023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016023]

AlphaFold

Q0KK56

Predicted Effect

probably benign
Transcript: ENSMUST00000016023
AA Change: S316L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: S316L

Domain	Start	End	E-Value	Type
Pfam:FAM184	50	248	7.7e-28	PFAM
coiled coil region	284	337	N/A	INTRINSIC
coiled coil region	387	495	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
coiled coil region	575	620	N/A	INTRINSIC
coiled coil region	686	775	N/A	INTRINSIC

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
A2ml1	T	A	6: 128,549,836	K1071*	probably null	Het
Abca13	G	T	11: 9,297,752	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,579,184	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,389,071	V199A	probably benign	Het
Aoc2	G	A	11: 101,325,801	V237M	probably damaging	Het
Aplp2	C	T	9: 31,150,944	R672H	probably damaging	Het
Apob	A	G	12: 7,995,513	N886S	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Atp6v1a	T	C	16: 44,106,940	Y328C	probably damaging	Het
Bag4	T	C	8: 25,777,493	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,956,760	S2000P	probably damaging	Het
Cubn	T	A	2: 13,325,184	T2629S	probably benign	Het
Cyhr1	C	T	15: 76,658,858	R34Q	probably damaging	Het
Cyp3a44	G	T	5: 145,777,946	S465Y	probably damaging	Het
Daam2	A	C	17: 49,486,497	F331V	probably damaging	Het
Dnajc3	T	C	14: 118,968,031	S146P	possibly damaging	Het
Dscam	A	G	16: 96,649,991		probably null	Het
Fat2	G	C	11: 55,253,934	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,761,265	R439C	probably damaging	Het
Gm3454	T	A	15: 75,311,599		noncoding transcript	Het
Gpatch3	A	G	4: 133,578,306	E284G	probably benign	Het
Grm1	A	T	10: 10,719,805	I693N	probably damaging	Het
Gsdme	T	A	6: 50,245,954	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,705,626	K458E	probably benign	Het
Kcns2	T	C	15: 34,838,934	F148L	probably benign	Het
Lama1	A	G	17: 67,750,643	T571A	probably benign	Het
Loxhd1	G	A	18: 77,381,558	V108M	probably damaging	Het
Mef2c	A	T	13: 83,662,359	T375S	probably benign	Het
Ncor1	A	T	11: 62,373,321	D144E	possibly damaging	Het
Nos3	A	T	5: 24,379,811	T738S	probably benign	Het
Nrxn2	A	T	19: 6,517,132	T1353S	probably damaging	Het
Olfr1289	T	C	2: 111,483,850	L140P	probably damaging	Het
Olfr146	A	G	9: 39,018,965	I192T	probably benign	Het
Olfr1535	G	T	13: 21,555,907	S38R	probably benign	Het
Pfpl	A	G	19: 12,429,383	T333A	probably damaging	Het
Postn	A	T	3: 54,376,716	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,230,524	V604A	probably benign	Het
Pramef12	A	C	4: 144,393,028	I323S	possibly damaging	Het
Prmt1	A	G	7: 44,977,102		probably null	Het
Rel	A	G	11: 23,742,684	S450P	probably benign	Het
Rpap2	A	C	5: 107,597,795	D3A	probably damaging	Het
Shisa9	T	C	16: 11,984,908	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,494,958		probably null	Het
Slx4	A	T	16: 3,980,157	F1454L	probably damaging	Het
Smc1b	A	T	15: 85,066,229	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,316,175	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,352,517	M568T	probably benign	Het
Tle4	T	C	19: 14,452,108	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,925,530	N803D	probably benign	Het
Trim10	A	T	17: 36,871,714	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,240,199		probably benign	Het
Zfp106	T	C	2: 120,535,393	S178G	probably benign	Het

Other mutations in Fam184b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Fam184b	APN	5	45539749	missense	probably benign	0.17
IGL00781:Fam184b	APN	5	45555192	splice site	probably null
IGL01636:Fam184b	APN	5	45584295	missense	probably benign	0.00
IGL02008:Fam184b	APN	5	45532823	missense	possibly damaging	0.75
IGL02123:Fam184b	APN	5	45639151	missense	possibly damaging	0.92
IGL02177:Fam184b	APN	5	45532815	nonsense	probably null
IGL02192:Fam184b	APN	5	45537720	missense	probably benign	0.00
IGL02478:Fam184b	APN	5	45537697	missense	probably damaging	0.99
IGL03368:Fam184b	APN	5	45531824	missense	possibly damaging	0.91
R0003:Fam184b	UTSW	5	45555194	splice site	probably benign
R0129:Fam184b	UTSW	5	45532778	missense	probably damaging	1.00
R0420:Fam184b	UTSW	5	45584512	missense	probably damaging	1.00
R0647:Fam184b	UTSW	5	45584590	missense	probably benign
R1215:Fam184b	UTSW	5	45584178	missense	probably damaging	1.00
R1374:Fam184b	UTSW	5	45555143	missense	probably benign
R1466:Fam184b	UTSW	5	45580509	splice site	probably benign
R1773:Fam184b	UTSW	5	45584334	missense	possibly damaging	0.60
R1865:Fam184b	UTSW	5	45531889	missense	possibly damaging	0.91
R3615:Fam184b	UTSW	5	45582815	missense	possibly damaging	0.56
R3616:Fam184b	UTSW	5	45582815	missense	possibly damaging	0.56
R4180:Fam184b	UTSW	5	45539764	missense	probably benign	0.00
R4375:Fam184b	UTSW	5	45542343	missense	probably benign
R4674:Fam184b	UTSW	5	45582888	nonsense	probably null
R4942:Fam184b	UTSW	5	45573307	missense	probably damaging	0.97
R5021:Fam184b	UTSW	5	45573262	missense	probably benign	0.01
R5450:Fam184b	UTSW	5	45539801	missense	probably benign
R5731:Fam184b	UTSW	5	45553129	missense	probably benign	0.00
R5858:Fam184b	UTSW	5	45639119	missense	probably damaging	0.99
R6032:Fam184b	UTSW	5	45582896	missense	probably benign	0.01
R6060:Fam184b	UTSW	5	45553147	missense	probably damaging	0.99
R6088:Fam184b	UTSW	5	45584012	missense	probably damaging	1.00
R6416:Fam184b	UTSW	5	45537653	missense	probably benign	0.04
R6932:Fam184b	UTSW	5	45532901	splice site	probably null
R6956:Fam184b	UTSW	5	45530757	missense	probably damaging	0.97
R6965:Fam184b	UTSW	5	45555135	missense	probably benign
R7229:Fam184b	UTSW	5	45584175	missense	probably damaging	1.00
R7303:Fam184b	UTSW	5	45542226	critical splice donor site	probably null
R7429:Fam184b	UTSW	5	45540888	missense	probably benign
R7522:Fam184b	UTSW	5	45530751	missense	probably damaging	1.00
R7541:Fam184b	UTSW	5	45542232	missense	probably damaging	0.99
R7942:Fam184b	UTSW	5	45584253	missense	probably benign	0.16
R8172:Fam184b	UTSW	5	45584367	missense	possibly damaging	0.86
R9470:Fam184b	UTSW	5	45584512	missense	probably damaging	1.00
R9649:Fam184b	UTSW	5	45639142	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGCCAATCAGATGCAATGG -3'
(R):5'- AAGGTGACTGCTGATCCTCC -3'

Sequencing Primer
(F):5'- ATCAGATGCAATGGTCCCG -3'
(R):5'- CCCTCCCAGCTGCTATAATTCTAGAG -3'

Posted On

2017-08-16